R37* (p.Arg37Ter) variant of ATRX (Chromatin remodeler ATRX)
R37* (p.Arg37Ter) in ATRX (Chromatin remodeler ATRX) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R37* (p.Arg37Ter) variant details
- p.Arg37Ter
- rs122445108
- ClinGen CA121653
- ClinVar RCV000012508
- ClinVar RCV000148028
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Carpenter-Waziri syndrome results from a mutation in XNP. (PMID 10398237)
- Cited in: A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. (PMID 10632111)